Hemophilia B with associated factor VII deficiency: A distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen

Girolami, Antonio; Zanon, R. Dal Bo; Marco, L De; Cappellato, G

doi:10.1007/bf01080186

Cited by 13 publications

(6 citation statements)

References 20 publications

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“…Factor VII deficiency seems to occur more frequently than factor V deficiency (9,11,12). Due to this higher preva- lence it is not surprising that factor VII deficiency or abnormality has been described in association with several other congenital clotting defects such as hemophilia A, hemophilia B, and Von Willebrand disease (2)(3)(4)(5)(6)13). On the contrary, factor V deficiency has been rarely associated with other clotting factors, with the exception of factor VIII to give the combined factor V and factor VIII deficiency (14,15).…”

Section: Discussionmentioning

confidence: 99%

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Girolami

Zanon

Bertomoro

et al. 1999

Clin Appl Thromb Hemost

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A patient with combined factor V and factor VII deficiency is described together with a family study. The propositus appeared to be double heterozygous for factor V and factor VII deficiency. Since the patient showed a parallel decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguineous. Other family members were found to have isolated factor V or factor VII deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays.

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Section: Discussionmentioning

confidence: 99%

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Girolami

Zanon

Bertomoro

et al. 1999

Clin Appl Thromb Hemost

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“…The association of FVII with FIX deserves some extensive discussion [31,32,33,34,35]. There are, apparently, three conditions in which FVII may be decreased in hemophilia B patients.…”

Section: Discussionmentioning

confidence: 99%

Congenital Combined Defects of Factor VII: A Critical Review

Girolami¹,

Ruzzon²,

Tezza³

et al. 2006

Acta Haematol

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Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.

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“…This associated defect could also be responsible for a mild prolongation of PT. It could be surmised that this was an artifact due to the presence of factor IX antigen, but it does not seem to be the case, as it is mainly present in patients with hemophilia B-, namely in patients with no antigen [9].…”

Section: ) [S]mentioning

confidence: 99%

“…Third, it should be remembered that a mild factor VII deficiency is sometimes present in hemophilia B patient [5,9]. This associated defect could also be responsible for a mild prolongation of PT.…”

Section: ) [S]mentioning

confidence: 99%

Prothrombin time using thromboplastins of different origin in hemophilia B^M patients

et al. 1994

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Letters and correspondence submitted for possible publication must be identified as such. Text length must not exceed 500 words and five bibliographic references. A single concise figure or table may be included if it is essential to support the communication. Letters not typed double-spaced will not be considered forpublication. Letters not meeting these specifications will not be returned to authors. Letters to the Editor are utilized to communicate a single novel observation or finding. Correspondence is to be used to supplement or constructively comment on the contents of a publication in the journal and cannot exceed the restrictions for Leiters to the Editor. The Editor reserves the right to shorten text, delete objectional comments and make other changes to comply with the style of the journal. Permission for publication must be appended as a postscript. Submissions must be sent to Marcel €. Conrad, M.D., Associate Editor, American Journal of Hematology, USA Cancer Center, Mobile, Alabama 36688 to permit rapid consideration for publication.

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Hemophilia B with associated factor VII deficiency: A distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen

Cited by 13 publications

References 20 publications

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Congenital Combined Defects of Factor VII: A Critical Review

Prothrombin time using thromboplastins of different origin in hemophilia B^M patients

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Hemophilia B with associated factor VII deficiency: A distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen

Cited by 13 publications

References 20 publications

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Combined Factor V and Factor VII Deficiency Due to an Independent Segregation of the Two Defects

Congenital Combined Defects of Factor VII: A Critical Review

Prothrombin time using thromboplastins of different origin in hemophilia BM patients

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Product

Resources

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Prothrombin time using thromboplastins of different origin in hemophilia B^M patients